nsv7093596
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_001042492.3(NF1):c.690_691insAAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG
CGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAGATGAA (p.Glu230_Phe231insLysLeuLeuGlyArgLeuArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProArgSerArgXaaXaaXaaLysLysLysLysLysLysLysGluAsnTyrProAspGlu) AND Neurofibromatosis, type 1 - Publication(s):Botkin et al. 2015, Chen et al. 2010, Dome et al. 2003, Fishbein et al. 2021, Friedman et al. 1998, Lenders et al. 2014, Radtke et al. 2007, Radtke et al. 2020, Robson et al. 2010, Robson et al. 2015, Trepanier et al. 2004
- ClinVar: RCV002895522.1
- ClinVar: VCV002042320.1
- GeneReviews: NBK1109
- MONDO: 0018975
- MedGen: C0027831
- OMIM: 162200
- OMIM: 613113.0001
- OMIM: 613113.0002
- OMIM: 613113.0003
- OMIM: 613113.0004
- OMIM: 613113.0005
- OMIM: 613113.0006
- OMIM: 613113.0007
- OMIM: 613113.0008
- OMIM: 613113.0009
- OMIM: 613113.0012
- OMIM: 613113.0013
- OMIM: 613113.0014
- OMIM: 613113.0015
- OMIM: 613113.0016
- OMIM: 613113.0021
- OMIM: 613113.0022
- OMIM: 613113.0023
- OMIM: 613113.0024
- OMIM: 613113.0025
- OMIM: 613113.0026
- OMIM: 613113.0027
- OMIM: 613113.0029
- OMIM: 613113.0030
- OMIM: 613113.0031
- OMIM: 613113.0032
- OMIM: 613113.0037
- OMIM: 613113.0038
- OMIM: 613113.0040
- OMIM: 613113.0041
- OMIM: 613113.0042
- OMIM: 613113.0043
- OMIM: 613113.0044
- OMIM: 613113.0046
- Orphanet: 636
- PubMed: 15604628
- PubMed: 17636453
- PubMed: 20065170
- PubMed: 20301288
- PubMed: 20301471
- PubMed: 20664475
- PubMed: 24893135
- PubMed: 26140447
- PubMed: 26324357
- PubMed: 32602153
- PubMed: 33939658
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 132 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093596 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 31,181,726 | 31,181,726 |
| nsv7093596 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,508,744 | 29,508,744 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786477 | insertion | Multiple | Multiple | NEUROFIBROMATOSIS, TYPE I; NF1; Neurofibromatosis 1; Neurofibromatosis type 1; Neurofibromatosis, type 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002895522.1, VCV002042320.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786477 | Submitted genomic | NC_000017.11:g.311 81726_31181727ins1 23 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 31,181,726 | 31,181,726 |
| nssv18786477 | Submitted genomic | NC_000017.10:g.295 08744_29508745ins1 23 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,508,744 | 29,508,744 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786477 | GRCh37: NC_000017.10:g.29508744_29508745ins123, GRCh38: NC_000017.11:g.31181726_31181727ins123 | insertion | germline | NEUROFIBROMATOSIS, TYPE I; NF1; Neurofibromatosis 1; Neurofibromatosis type 1; Neurofibromatosis, type 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002895522.1, VCV002042320.1 |